ClinVar Miner

List of variants studied for GPR143-related foveal hypoplasia by 3billion

Included ClinVar conditions (3):

Nystagmus 6, congenital, X-linked
Ocular albinism, type I
Ocular albinism, type I; Nystagmus 6, congenital, X-linked

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000273.3(GPR143):c.456-5_463del	rs2146691632
NM_000273.3(GPR143):c.885+1G>A	rs281865184

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.